Clinicopathologic features

临床病理特征
  • 文章类型: Journal Article
    背景:在三阴性乳腺癌(TNBC)中,间质瘤浸润淋巴细胞(sTIL)水平升高与治疗结果和预后相关。本研究旨在探讨TNBC的临床病理和超声特征与sTILs水平的关系。
    方法:本研究包括侵袭性TNBC患者手术切除后对sTILs的术后评估。肿瘤形状,margin,定位,回声模式,后部特征,钙化,和血管分布进行回顾性评估。患者分为高sTIL(≥20%)和低sTIL(<20%)水平组。卡方或Fisher精确检验用于评估临床病理和超声特征与sTILs水平的关联。
    结果:171例患者(平均±SD年龄,54.7±10.3年[范围,22-87年])包括低sTIL水平的58.5%(100/171)和高sTIL水平的41.5%(71/171)。高sTILs水平的TNBC肿瘤更有可能是非特殊类型的浸润性癌(p=0.008)。组织学分级较高(p=0.029),较高的Ki-67增殖率(均p<0.05),以及相关DCIS分量的较低频率(p=0.026)。此外,高sTIL水平的TNBC肿瘤更可能是椭圆形或圆形(p=0.001),平行取向(p=0.011),外接或微分叶边缘(p<0.001),复杂的囊性和实性回声模式(p=0.001),后增强(p=0.002),并且不太可能具有异质模式(p=0.001)并且没有后验特征(p=0.002)。
    结论:这项初步研究表明,术前超声特征有助于区分TNBC患者的高sTILs和低sTILs。
    BACKGROUND: Increased level of stromal tumor-infiltrating lymphocytes (sTILs) are associated with therapeutic outcomes and prognosis in triple-negative breast cancer (TNBC). This study aimed to investigate the associations of clinicopathologic and sonographic features with sTILs level in TNBC.
    METHODS: This study included invasive TNBC patients with postoperative evaluation of sTILs after surgical resection. Tumor shape, margin, orientation, echo pattern, posterior features, calcification, and vascularity were retrospectively evaluated. The patients were categorized into high-sTILs (≥ 20%) and low-sTILs (< 20%) level groups. Chi-square or Fisher\'s exact tests were used to assess the association of clinicopathologic and sonographic features with sTILs level.
    RESULTS: The 171 patients (mean ± SD age, 54.7 ± 10.3 years [range, 22‒87 years]) included 58.5% (100/171) with low-sTILs level and 41.5% (71/171) with high-sTILs level. The TNBC tumors with high-sTILs level were more likely to be no special type invasive carcinoma (p = 0.008), higher histologic grade (p = 0.029), higher Ki-67 proliferation rate (all p < 0.05), and lower frequency of associated DCIS component (p = 0.026). In addition, the TNBC tumors with high-sTILs level were more likely to be an oval or round shape (p = 0.001), parallel orientation (p = 0.011), circumscribed or micro-lobulated margins (p < 0.001), complex cystic and solid echo patterns (p = 0.001), posterior enhancement (p = 0.002), and less likely to have a heterogeneous pattern (p = 0.001) and no posterior features (p = 0.002).
    CONCLUSIONS: This preliminary study showed that preoperative sonographic characteristics could be helpful in distinguishing high-sTILs from low-sTILs in TNBC patients.
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  • 文章类型: Journal Article
    食管梭形细胞鳞状细胞癌(ESS)是一种罕见的双相肿瘤,由癌成分(CaC)和肉瘤成分(SaC)组成。然而,ESS的基因组起源和基因签名仍不清楚.使用激光捕获显微切割(LCM)肿瘤样本的全外显子组测序,我们确定CaC和SaC表现出很高的突变共性,具有相同的顶级高频突变基因,突变特征,和肿瘤突变负担;配对样本共有中位数为25.5%的突变位点。在染色体3q29、5p15.33和11q13.3上发现了局灶性增益。改变的基因主要富集在RTK-RAS信号通路中。系统发育树显示出ESS的单克隆起源。躯干中最常见的癌基因是TP53,其次是NFE2L2,KMT2D,MUC16发现CDC27、LRP2、APC、SNAPC4我们的数据强调了ESS的单克隆起源,TP53是一种有效的致癌基因,建议新的靶向疗法和免疫疗法作为治疗选择。©2024英国和爱尔兰病理学会。
    Esophageal spindle-cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole-exome sequencing of laser-capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high-frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK-RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland.
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  • 文章类型: Journal Article
    目的:对肺腺癌(LUAD)晚期复发(术后2年)相关危险因素的研究有限。我们调查了与切除的I-IIIA期LUAD晚期复发相关的发病率以及临床病理和基因组特征。
    方法:我们对I-IIIALUAD(2010-2019)病理分期完全切除的患者进行了回顾性分析。有肺癌病史的患者,新辅助治疗,或粘液或非侵入性LUAD,或随访<2年被排除。Cox和logistic回归模型用于比较无,早期(≤2年),晚期复发。对基因组突变的比较进行了多次测试校正。
    结果:在2349例患者中,537在随访期间复发。大多数复发(55%[297/537])发生在早期;45%(240/537)发生在晚期。局部复发的晚期复发比例高于早期复发(37%vs.29%;p=0.047)。晚期复发的患者具有更积极的病理特征(IASLC2级和3级,淋巴血管侵犯,内脏胸膜侵犯)和分期高于未复发的患者。早期和晚期复发患者的病理特征相似,除了IIIA期疾病在早期队列中更为常见.无基因组突变与晚期复发相关。
    结论:LUAD术后晚期复发比以前报道的更常见。手术后>2年无疾病的患者,在切除时具有侵袭性病理特征,复发风险升高,并可能受益于更积极的随访。
    OBJECTIVE: Research into the risk factors associated with late recurrence (>2 years after surgery) of lung adenocarcinoma is limited. We investigated the incidence of and clinicopathologic and genomic features associated with late recurrence of resected stage I-IIIA lung adenocarcinoma.
    METHODS: We performed a retrospective analysis of patients with completely resected pathologic stage I-IIIA lung adenocarcinoma (2010-2019). Patients with a history of lung cancer, neoadjuvant therapy, or mucinous or noninvasive lung adenocarcinoma, or with follow-up of less than 2 years were excluded. Cox and logistic regression modeling were used to compare clinicopathologic variables among patients with no, early (≤2 years), and late recurrence. Comparisons of genomic mutations were corrected for multiple testing.
    RESULTS: Of the 2349 patients included, 537 developed a recurrence during follow-up. Most recurrences (55% [297/537]) occurred early; 45% (240/537) occurred late. A larger proportion of late recurrences than early recurrences were locoregional (37% vs 29%; P = .047). Patients with late recurrence had more aggressive pathologic features (International Association for the Study of Lung Cancer grade 2 and 3, lymphovascular invasion, visceral pleural invasion) and higher stage than patients without recurrence. Pathologic features were similar between patients with early and late recurrence, except stage IIIA disease was more common in the early cohort. No genomic mutations were associated with late recurrence.
    CONCLUSIONS: Late recurrence of lung adenocarcinoma after resection is more common than previously reported. Patients without disease more than 2 years after surgery who had aggressive pathologic features at the time of resection have an elevated risk of recurrence and may benefit from more aggressive follow-up.
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  • 文章类型: Journal Article
    人类表皮生长因子受体2(HER2)-低乳腺癌已成为乳腺癌的一种亚型,由免疫组织化学(IHC)中的HER21/2定义,并且在荧光原位杂交(FISH)上没有ERBB2基因扩增。最近的试验显示低HER2乳腺癌对新型抗HER2抗体-药物缀合物的显著应答。关于低HER2乳腺癌亚型特征的数据有限。来自Hotel-DieudeFrance解剖病理学系的真实世界数据,2017-2023年,是回顾性收集的。HER2阳性患者被排除,以比较低HER2与零HER2乳腺癌亚型。使用卡方检验比较两组之间的临床病理特征。在1195名患者中,我们观察到341例(28.5%)低HER2乳腺癌病例.HER2阳性乳腺癌病例(n=178;14.9%)被排除。HER2低组和HER2零组之间的年龄和性别没有显着差异(分别为p=0.33和0.79)。低HER2乳腺癌与雌激素受体阳性和孕激素受体阳性相关(分别为p<0.001和p=0.01)。导管腺癌在低HER2组中更常见(p<0.001)。当按激素(HR)状态分层时,87.4%的患者HR阳性,12.6%的患者HR阴性。在HR阴性组中,与HER2零肿瘤相比,HER2低肿瘤倾向于显示较低的增殖指数(25%vs.10%,p=0.04)。这项研究表明,HER2低与HER2零不同,在乳腺癌患者中很常见。HER2零型和HER2低型乳腺癌的临床病理特征如组织学类型不同。在HR阴性乳腺癌中,与HER2-零肿瘤相比,HER2低表达的患者表现出的侵袭性较低.
    Human epidermal growth factor receptor 2 (HER2)-low breast cancer has emerged as a subtype of breast cancer, defined by HER2 1+/2+ in immunohistochemistry (IHC) and absence of ERBB2 gene amplification on fluorescence in situ hybridization (FISH). Recent trials showed marked response of HER2-low breast cancer to novel anti-HER2 antibody-drug-conjugates. Data on characteristics of HER2-low breast cancer subtype is limited. Real-world data from the Anatomic Pathology Department of Hotel-Dieu de France, spanning 2017-2023, was retrospectively collected. HER2-positive patients were excluded to compare HER2-low to HER2-zero breast cancer subtypes. Clinicopathological characteristics between the groups were compared using a Chi-Squared test. Out of 1195 patients, we observed 341 (28.5 %) HER2-low breast cancers cases. HER2-positive breast cancer cases (n = 178; 14.9 %) were excluded. There was no significant difference in age and sex between HER2-low and HER2-zero group (p = 0.33 and 0.79, respectively). HER2-low breast cancer was associated with positive estrogen receptor status and positive progesterone receptor status (p < 0.001 and p = 0.01, respectively). Ductal adenocarcinomas were more commonly observed in HER2-low group (p < 0.001). When stratified by hormone (HR) status, 87.4 % of patients had HR-positive status and 12.6 % were HR-negative. Among the HR-negative group, HER2-low tumors tended to show lower proliferation index compared to HER2-zero tumors (25%vs.10 %, p = 0.04). This study showed that HER2-low is distinct from HER2-zero and is common among patients with breast cancer. Clinicopathological features such as histological type differ between HER2-zero and HER2-low breast cancer. Within HR-negative breast cancer, those with low HER2 expression exhibit a less aggressive profile compared to HER2-zero tumors.
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  • 文章类型: Journal Article
    背景:采用Meta分析探讨信使核糖核酸(mRNA)表达与乳腺癌临床病理特征的相关性。
    方法:英文数据库,PubMed,WebofScience,Embase,和Cochrane图书馆,等。,是用电脑搜索的.检索的时间范围设置为从数据库建立到2023年12月。搜索词设置为“mRNA”,“乳腺癌”,“病理学”,“临床病理特征”,等。筛选符合纳入和排除标准的文献,并提取数据供Revman5.3分析。
    结果:最后,选择5篇合适的纳入文献,包括969名患者。分析结果发现mRNA表达与BC分级之间存在显着关联(OR=0.11,95%CI=0.04-0.30,Z=4.26,P<0.0001);mRNA表达与BC分期之间存在显着相关性(OR=0.19,95%CI=0.05-0.65,Z=2.65,P=0.008<0.05);在BC患者中,mRNA表达与月经状态之间没有相关性(OR=0.48%CI=0.88,在讨论部分,这项研究,包括10项研究,目的探讨信使核糖核酸与BC临床病理特征的相关性。BC的分期和分级,与肿瘤大小有一定的相关性,与BC患者的月经状况无相关性。
    BACKGROUND: Meta analysis was adopted to investigate the correlation between messenger ribonucleic acid (mRNA) expression and clinicopathological features of breast cancer (BC).
    METHODS: English databases, PubMed, Web of Science, Embase, and The Cochrane Library, etc., were searched using a computer. The time range of retrieval was set to be from the establishment of the database to December 2023. The search terms were set as \"mRNA\", \"Breast cancer\", \"Pathology\", \"Clinicopathological characteristics\", etc. The literatures were screened in line with the inclusion and exclusion criteria, and the data was extracted for analysis by Revman5.3.
    RESULTS: Finally, 5 suitable included literatures were selected, including 969 patients. The analysis results were found to reveal a significant association between mRNA expression and BC grading (OR = 0.11, 95% CI = 0.04-0.30, Z = 4.26, P<0.0001); a significant correlation was observed between mRNA expression and BC staging (OR = 0.19, 95% CI = 0.05-0.65, Z = 2.65, P = 0.008<0.05); no correlation was found between mRNA expression and menstrual status of BC patients (OR = 0.63, 95% CI = 0.22-1.78, Z = 0.88, P = 0.38>0.05); a correlation was identified between mRNA expression and tumor size in BC (OR = 0.48, 95% CI = 0.24-0.99, Z = 2.00, P = 0.05). In the Discussion section, this study, comprising 10 research studies, aimed to explore the correlation between messenger ribonucleic acid and the clinical pathological features of BC. staging and grading of BC, a certain correlation with tumor size, and no correlation with the menstrual status of BC patients.
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  • 文章类型: Journal Article
    背景:本研究旨在探讨中国主动脉炎的临床和病理特征,这是一种罕见的疾病,术前经常被忽视。
    方法:回顾性分析2016-2023年武汉亚洲总医院2950例主动脉手术患者的临床资料。收集并比较不同组的临床和病理数据。
    结果:在2950名患者中,15例主动脉炎治愈,2例已治愈的Takayasu主动脉炎(TAK)和13例未进一步分类。42患有活动性主动脉炎,包括临床孤立性主动脉炎(CIA,42.9%),感染性主动脉炎(IA,26.2%),大动脉炎(TAK,16.7%),和Behçet综合征(BS,14.3%),这些病例中有一半在术前未被确认.所有在随访期间出现瓣膜周围渗漏的患者在初次手术时并发非感染性瓣膜炎并伴有混合炎症模式。18例CIA患者中有17例存活,没有并发症,11例IA患者中有8例,7名TAK患者中有6名,6例BS患者中有2例。
    结论:一半的主动脉炎病例最初是由病理学家诊断的。混合炎症模式的非感染性瓣膜炎是瓣周漏的危险因素。BS与较高的并发症发生率相关。在中国,CIA患者预后良好,这与西方不同。
    BACKGROUND: This study aimed to explore the clinical and pathological features of aortitis in China, which is a rare disease that is often overlooked preoperatively.
    METHODS: We reviewed the records of 2950 patients who underwent aortic surgery at Wuhan Asia General Hospital from 2016 to 2023. Clinical and pathological data were collected and compared across different groups.
    RESULTS: Out of 2950 patients, 15 had healed aortitis, 2 were healed Takayasu aortitis (TAK), and 13 were not further classified. Forty-two had active aortitis, including clinically isolated aortitis ([CIA], 42.9%), infectious aortitis ([IA], 26.2%), TAK (16.7%), and Behçet\'s syndrome ([BS], 14.3%), half of these cases were not recognized preoperatively. All patients who developed perivalvular leakage during follow-up had concurrent non-infectious valvulitis with mixed inflammatory pattern at the time of initial surgery. Seventeen out of 18 patients with CIA survived without complications, as did 8 out of 11 patients with IA, 6 out of 7 patients with TAK, and 2 out of 6 patients with BS.
    CONCLUSIONS: Half of the aortitis cases were initially diagnosed by pathologists. Noninfectious valvulitis with mixed inflammatory pattern is a risk factor for perivalvular leakage. BS is associated with a higher rate of complications. Patients with CIA have a good prognosis in China, which is different from the West.
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  • 文章类型: Journal Article
    POU2类同源盒3(POU2F3)阳性小细胞膀胱癌(SCBC)是一种极为罕见的实体,其临床病理特征尚未得到充分描述。这里,我们研究了4例POU2F3阳性小细胞膀胱癌(SCBC)的临床病理特征并复习了文献。我们从我科档案中搜集12例SCBC,用免疫组化(IHC)染色检测POU2F3的表达。使用DESeq2软件对具有或不具有POU2F3表达的选定病例进行两个不同组之间的基因表达分析。我们确定了4名POU2F3阳性SCBC患者,2男2女,平均年龄77岁.三个病人有血尿,1例患者出现排尿困难。放射学检查结果显示膀胱肿块。病理诊断为单纯SCBC3例,混合型尿路上皮癌(UC)1例。组织病理学,四个POU2F3阳性的SCBC肿瘤由小圆形细胞组成,细胞质稀疏,核呈盐和胡椒状或颗粒状。肿瘤细胞显示特征性的细胞质染色,具有细胞角蛋白的点状阳性信号。4例患者中Syn和CD56均为弥漫阳性。CgA仅在一名患者中呈阳性。POU2F3阳性SCBC通过RNA-Seq显示POU2F3、HMGA2和PLCG2基因的较高表达水平。我们的数据显示了4例罕见的POU2F3阳性SCBC病例的具体临床病理特征,在有限的病例中,POU2F3阳性和阴性SCBC之间观察到了明显的分子特征。
    POU class 2 homeobox 3 (POU2F3)-positive small cell bladder carcinoma (SCBC) is an extremely rare entity, and its clinicopathologic features have not been fully described. Here, we investigated the clinicopathologic features of 4 cases of POU2F3-positive small cell bladder carcinoma (SCBC) and reviewed the literature. We collected 12 cases of SCBC from our departmental archives and detected the expression of POU2F3 by immunohistochemical (IHC) staining. Selected cases with or without POU2F3 expression were subjected to gene expression analysis between two different groups using DESeq2 software. We identified 4 POU2F3-positive SCBC patients, 2 males and 2 females, with a mean age of 77 years. Three patients had hematuria, and 1 patient had dysuria. Radiologic findings showed a bladder mass. Pathologic diagnosis showed that 3 cases were pure SCBC and 1 was mixed urothelial cancer (UC). Histopathologically, four POU2F3-positive SCBC tumors were composed of small round cells with sparse cytoplasm, the nuclei were salt-and-pepper-like or finely granular. Tumor cells showed characteristic cytoplasmic staining with punctate positive signals for cytokeratin. Syn and CD56 were diffusely positive in all the 4 patients. CgA was positive in only one patient. POU2F3-positive SCBC showed higher expression levels of POU2F3, HMGA2 and PLCG2 genes by RNA-Seq. Our data showed the specific clinicopathologic features of 4 rare POU2F3-positive SCBC cases, and the distinct molecular feature was observed between POU2F3-positive and negative SCBC in the limited number of cases.
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  • 文章类型: Journal Article
    背景:本研究的目的是探讨脂质代谢生物标志物与胃癌的相关性。
    方法:1120名胃癌患者和1134名健康体检者参加了这项研究。临床数据和血脂水平,包括总胆固醇(TC),甘油三酯(TG),低密度脂蛋白胆固醇(LDL-C)和高密度脂蛋白胆固醇(HDL-C),被收集。
    结果:胃癌患者血清TG和LDL-C水平高于对照组。HDL-C水平低于对照组(P<0.05)。HDL-C和LDL-C与胃癌风险显著相关。专注于临床病理特征,TG升高在远端胃癌男性患者中更为常见,N0期和早期TNM期。在T早期,TC增加更频繁,N和TNM阶段。HDL-C降低在远端和低分化胃癌中更为常见。LDL-C升高在远端胃癌和早期T期更为常见。
    结论:胃癌患者的血脂水平高于健康对照组。HDL-C和LDL-C异常与胃癌风险相关。然而,随着胃癌的进展,患者摄入量差,肿瘤消耗增加,营养状况持续下降,进展期胃癌患者血清TC和TG水平逐渐降低。
    BACKGROUND: The aim of this study was to explore the correlation between biomarkers of lipid metabolism and gastric cancer.
    METHODS: 1120 gastric cancer patients and 1134 health examiners enrolled in this study. The clinic data and serum lipid level, including Total cholesterol (TC), Triglyceride (TG), Low-density lipoprotein cholesterol (LDL-C) and High-density lipoprotein cholesterol (HDL-C), were collected.
    RESULTS: Serum TG and LDL-C levels in patients with gastric cancer were higher than those in the control group. HDL-C levels were lower than the control group (P < 0.05). HDL-C and LDL-C were significantly correlated with the risk of gastric cancer. Concentrating on clinicopathological features, increased TG was more frequently in male patients with distal gastric cancer, N0 stage and early TNM stage. Increased TC was more frequently in early T, N and TNM stage. Decreased HDL-C was more common in distal location and low-undifferentiated gastric cancer. LDL-C elevation was more common in distal gastric cancer and early T stage.
    CONCLUSIONS: The serum lipid level of gastric cancer patients was higher than healthy controls. HDL-C and LDL-C abnormal correlated with gastric cancer risk. However, as the progresses of gastric cancer, poor patient intake, increased tumor consumption, and continuous declining in nutritional status, the levels of TC and TG gradually decreased in advanced gastric cancer.
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  • 文章类型: Journal Article
    背景:由于胰腺未分化肉瘤样癌(USCP)的罕见性,其临床病程和手术结果仍不明确。本研究旨在描述组织学,临床病理特征,围手术期结局,23例切除的USCP患者的总生存期(OS)。
    方法:我们回顾性描述了组织学,临床病理特征,在单个机构中接受胰腺切除术并最终诊断为USCP的患者的围手术期结果和OS。
    结果:本研究共纳入23例患者。12名患者为男性,诊断时的中位年龄为61.5±13.0岁(范围:35~89岁).USCP患者没有特异性症状和特征性影像学表现。21例获得R0切除。对9例患者进行了En整块切除和肠系膜门静脉轴重建。在这项研究中,没有因围手术期并发症而死亡。对14例患者进行了术中肿瘤引流淋巴结(TDLN)清扫。1-,3、5年生存率为43.5%,在整个研究中分别为4.8%和4.8%,中位生存期为9.0个月.只有1名患者存活超过5年,并且在最后一次随访时仍然活着。远处转移的存在(p=0.004)和经病理证实的肠系膜门静脉轴浸润的存在(p=0.007)与不良OS独立相关。
    结论:USCP是一种罕见的胰腺恶性肿瘤亚组,预后不佳。由于缺乏特定的表现,通过成像诊断USCP非常困难。准确的诊断取决于病理活检,USCP的IHC谱主要表现为上皮和间充质标志物的共表达。很大一部分病人早逝,特别是对于有远处转移和病理证实的肠系膜-门轴侵犯的患者。USCPs根治性切除术后的长期生存仍然很少。
    BACKGROUND: The clinical course and surgical outcomes of undifferentiated sarcomatoid carcinoma of the pancreas (USCP) remain poorly characterized owing to its rarity. This study aimed to describe the histology, clinicopathologic features, perioperative outcomes, and overall survival (OS) of 23 resected USCP patients.
    METHODS: We retrospectively described the histology, clinicopathologic features, perioperative outcomes and OS of patients who underwent pancreatectomy with a final diagnosis of USCP in a single institution.
    RESULTS: A total of 23 patients were included in this study. Twelve patients were male, the median age at diagnosis was 61.5 ± 13.0 years (range: 35-89). Patients with USCP had no specific symptoms and characteristic imaging findings. The R0 resection was achieved in 21 cases. The En bloc resection and reconstruction of mesenteric-portal axis was undertaken in 9 patients. There were no deaths attributed to perioperative complications in this study. The intraoperative tumor-draining lymph nodes (TDLNs) dissection was undergone in 14 patients. The 1-, 3- and 5-year survival rates were 43.5%, 4.8% and 4.8% in the whole study, the median survival was 9.0 months. Only 1 patient had survived more than 5 years and was still alive at last follow-up. The presence of distant metastasis (p = 0.004) and the presence of pathologically confirmed mesenteric-portal axis invasion (p = 0.007) was independently associated with poor OS.
    CONCLUSIONS: USCP was a rare subgroup of pancreatic malignancies with a bleak prognosis. To make a diagnose of USCP by imaging was quite difficult because of the absence of specific manifestations. Accurate diagnosis depended on pathological biopsy, and the IHC profile of USCP was mainly characterized by co-expression of epithelial and mesenchymal markers. A large proportion of patients have an early demise, especially for patients with distant metastasis and pathologically confirmed mesenteric-portal axis invasion. Long-term survival after radical resection of USCPs remains rare.
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  • 文章类型: Review
    背景:脑膜瘤和颅面纤维发育不良(CFD)的共存很少。由于类似的放射学特征,将这种共存性与孤立性肥厚性脑膜瘤区分开来是具有挑战性的,导致了迅速诊断和适当干预的两难选择.
    方法:我们对2003年至2021年在北京天坛医院接受治疗的21例合并脑膜瘤和CFD患者的数据进行了回顾性回顾。我们总结了他们的临床病理特征,并进行了全面的文献综述。此外,我们测试了GNAS基因外显子8和9的特征性致病变异以及与CFD相关的刺激性G蛋白(Gαs)的相应α亚基的表达,以探索这两种疾病之间的潜在相互作用。
    结果:该队列包括4名男性和17名女性(平均年龄,45.14年)。CFD最常见的是蝶骨(n=10),脑膜瘤主要位于颅底(n=12)。对4个CFD病变和14个脑膜瘤进行了手术治疗。在14例切除的脑膜瘤中,有12例实现了辛普森I-II级切除,几乎所有脑膜瘤都被归类为WHOI级(n=13)。平均随访时间56.89个月,2例复发。在7个肿瘤标本中进行了遗传学研究,在8个样本中完成了免疫组织化学,表明尽管未检测到GNAS变体,Gαs蛋白呈不同程度的阳性表达。
    结论:我们介绍了一系列罕见的共同诊断脑膜瘤和CFD,并提供了其临床病理特征的详细描述,治疗策略和预后。尽管尚未建立明确的因果关系,不能排除这两种疾病之间可能的遗传或环境相互作用。对伴随的脑膜瘤和CFD进行及时诊断和适当治疗具有挑战性,因为其放射学表现与具有反应性增生的脑膜瘤相似。脑膜瘤和CFD的共存应采取个性化和多学科的管理策略。
    BACKGROUND: The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic meningioma resulting in a dilemma of prompt diagnosis and appropriate intervention.
    METHODS: We conducted a retrospective review of the data from 21 patients with concomitant meningioma and CFD who were treated at Beijing Tiantan Hospital from 2003 to 2021. We summarized their clinicopathological features and performed a comprehensive literature review. Additionally, we tested the characteristic pathogenic variants in exon 8 and 9 of GNAS gene and the expression of corresponding α-subunit of the stimulatory G protein (Gαs) related to CFD to explore the potential interactions between these two diseases.
    RESULTS: The cohort comprised 4 men and 17 women (mean age, 45.14 years). CFD most commonly involved the sphenoid bone (n = 10) and meningiomas were predominantly located at the skull base (n = 12). Surgical treatment was performed in 4 CFD lesions and 14 meningiomas. Simpson grade I-II resection was achieved in 12 out of the 14 resected meningiomas and almost all of them were classified as WHO I grade (n = 13). The mean follow-up duration was 56.89 months and recurrence was noticed in 2 cases. Genetic study was conducted in 7 tumor specimens and immunohistochemistry was accomplished in 8 samples showing that though GNAS variant was not detected, Gαs protein were positively expressed in different degrees.
    CONCLUSIONS: We presented an uncommon case series of co-diagnosed meningioma and CFD and provided a detailed description of its clinicopathological features, treatment strategy and prognosis. Although a definite causative relationship had not been established, possible genetic or environmental interplay between these two diseases could not be excluded. It was challenging to initiate prompt diagnosis and appropriate treatment for concomitant meningioma and CFD because of its similar radiological manifestations to meningioma with reactive hyperostosis. Personalized and multi-disciplinary management strategies should be adopted for the co-existence of meningioma and CFD.
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